Molecular Characterization Reveals Subclasses of 1q Gain in Intermediate Risk Wilms Tumors.

ABSTRACT: Chromosomal alterations have recurrently been identified in Wilms tumors (WTs) and some are associated with poor prognosis. Gain of 1q (1q+) is of special interest given its high prevalence and is currently actively studied for its prognostic value. However, the underlying mutational mechanisms and functional effects remain unknown. In a national unbiased cohort of 30 primary WTs, we integrated somatic SNVs, CNs and SVs with expression data and distinguished four clusters characterized by affected biological processes: muscle differentiation, immune system, kidney development and proliferation. Combined genome-wide CN and SV profiles showed that tumors profoundly differ in both their types of 1q+ and genomic stability and can be grouped into WTs with co-occurring 1p-/1q+, multiple chromoso

SUBMITTER: van Belzen IAEM 

PROVIDER: S-EPMC9564324 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature